Mutations and polymorphisms of estrogens receptors genes and diseases susceptibility

References

• Ingles SA, Ross RK, Yu MC, Irvine RA, La Pera G, Haile RW, Coetzee GA. Association of prostate cancer risk with genetic polymorphisms in vitamin D receptor and androgen receptor. J Natl Cancer Inst 1977, 89, 166–170.
   Google Scholar
• Ascenzi P, Bocedi A, Marino M. Structure-function relationship of estrogen receptor alpha and beta: impact on human health. Mol Aspects Med 2006, 27, 299–402.
   PubMedGoogle Scholar
• Jensen EV, Jordan VC. The estrogen receptor: a model for molecular medicine. Clin Cancer Res 2003, 9, 1980–1989.
   PubMed Web of Science ®Google Scholar
• Stevens A, Soden J, Brenchley PE, Ralph S, Ray DW. Haplotype analysis of the polymorphic human vascular endothelial growth factor gene promoter. Cancer Res 2003, 63, 812–816.
   PubMed Web of Science ®Google Scholar
• Tempfer CB, Schneeberger C, Huber JC. Applications of polymorphisms and pharmacogenomics in obstetrics and gynecology. Pharmacogenomics 2004, 5, 57–65.
   PubMed Web of Science ®Google Scholar
• Gold B, Kalush F, Bergeron J, Scott K, Mitra N, Wilson K, Ellis N, Huang H, Chen M, Lippert R, Halldorsson BV, Woodworth B, White T, Clark AG, Parl FF, Broder S, Dean M, Offit K. Estrogen receptor genotypes and haplotypes associated with breast cancer risk. Cancer Res 2004, 64, 8891–8900.
   PubMed Web of Science ®Google Scholar
• Schuit SC, de Jong FH, Stolk L, Koek WN, van Meurs JB, Schoofs MW, Zillikens MC, Hofman A, van Leeuwen JP, Pols HA, Uitterlinden AG. Estrogen receptor alpha gene polymorphisms are associated with estradiol levels in postmenopausal women. Eur J Endocrinol 2005, 153, 327–334.
   PubMed Web of Science ®Google Scholar
• Maruyama H, Toji H, Harrington CR, Sasaki K, Izumi Y, Ohnuma T, Arai H, Yasuda M, Tanaka C, Emson PC, Nakamura S, Kawakami H. Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease. Arch Neurol 2000, 57, 236–240.
   PubMedGoogle Scholar
• Albagha OM, McGuigan FE, Reid DM, Ralston SH. Estrogen receptor alpha gene polymorphisms and bone mineral density: haplotype analysis in women from the United Kingdom. J Bone Miner Res 2001, 16, 128–134.
   PubMed Web of Science ®Google Scholar
• Menasce LP, White GR, Harrison CJ, Boyle JM. Localization of the estrogen receptor locus (ESR) to chromosome 6q25.1 by FISH and a simple post-FISH banding technique. Genomics 1993, 17, 263–265.
   PubMed Web of Science ®Google Scholar
• Enmark E, Pelto-Huikko M, Grandien K, Lagercrantz S, Lagercrantz J, Fried G, Nordenskjöld M, Gustafsson JA. Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern. J Clin Endocrinol Metab 1997, 82, 4258–4265.
   PubMed Web of Science ®Google Scholar
• Green S, Walter P, Kumar V, Krust A, Bornert JM, Argos P, Chambon P. Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A. Nature 1986, 320, 134–139.
   PubMed Web of Science ®Google Scholar
• Kuiper GG, Enmark E, Pelto-Huikko M, Nilsson S, Gustafsson JA. Cloning of a novel receptor expressed in rat prostate and ovary. Proc Natl Acad Sci USA 1996, 93, 5925–5930.
   PubMed Web of Science ®Google Scholar
• Ogawa S, Inoue S, Watanabe T, Hiroi H, Orimo A, Hosoi T, Ouchi Y, Muramatsu M. The complete primary structure of human estrogen receptor beta (hER beta) and its heterodimerization with ER alpha in vivo and in vitro. Biochem Biophys Res Commun 1998, 243, 122–126.
   PubMed Web of Science ®Google Scholar
• Mosselman S, Polman J, Dijkema R. ER beta: identification and characterization of a novel human estrogen receptor. FEBS Lett 1996, 392, 49–53.
   PubMed Web of Science ®Google Scholar
• Reid G, Denger S, Kos M, Gannon F. Human estrogen receptor-alpha: regulation by synthesis, modification and degradation. Cell Mol Life Sci 2002, 59, 821–831.
   PubMed Web of Science ®Google Scholar
• Couse JF, Korach KS. Estrogen receptor null mice: what have we learned and where will they lead us? Endocr Rev 1999, 20, 358–417.
   PubMed Web of Science ®Google Scholar
• Mueller SO, Korach KS. Estrogen receptors and endocrine diseases: lessons from estrogen receptor knockout mice. Curr Opin Pharmacol 2001, 1, 613–619.
   PubMedGoogle Scholar
• Pettersson K, Gustafsson JA. Role of estrogen receptor beta in estrogen action. Annu Rev Physiol 2001, 63, 165–192.
   PubMed Web of Science ®Google Scholar
• Muramatsu M, Inoue S. Estrogen receptors: how do they control reproductive and nonreproductive functions? Biochem Biophys Res Commun 2000, 270, 1–10.
   PubMed Web of Science ®Google Scholar
• Albertazzi P, Purdie DW. The life and times of the estrogen receptors: an interim report. Climacteric 2001, 4, 194–202.
   PubMedGoogle Scholar
• Gustafsson JA. Novel aspects of estrogen action. J Soc Gynecol Investig 2000, 7, S8–S9.
   Google Scholar
• Takeyama J, Suzuki T, Inoue S, Kaneko C, Nagura H, Harada N, Sasano H. Expression and cellular localization of estrogen receptors alpha and beta in the human fetus. J Clin Endocrinol Metab 2001, 86, 2258–2262.
   PubMedGoogle Scholar
• Gustafsson JA. Estrogen receptor beta–a new dimension in estrogen mechanism of action. J Endocrinol 1999, 163, 379–383.
   PubMed Web of Science ®Google Scholar
• Bardin A, Boulle N, Lazennec G, Vignon F, Pujol P. Loss of ERbeta expression as a common step in estrogen-dependent tumor progression. Endocr Relat Cancer 2004, 11, 537–551.
   PubMed Web of Science ®Google Scholar
• Batistatou A, Kyzas PA, Goussia A, Arkoumani E, Voulgaris S, Polyzoidis K, Agnantis NJ, Stefanou D. Estrogen receptor beta (ERbeta) protein expression correlates with BAG-1 and prognosis in brain glial tumours. J Neurooncol 2006, 77, 17–23.
   PubMed Web of Science ®Google Scholar
• Cai Q, Gao YT, Wen W, Shu XO, Jin F, Smith JR, Zheng W. Association of breast cancer risk with a GT dinucleotide repeat polymorphism upstream of the estrogen receptor-alpha gene. Cancer Res 2003, 63, 5727–5730.
   PubMedGoogle Scholar
• Iwase H, Greenman JM, Barnes DM, Hodgson S, Bobrow L, Mathew CG. Sequence variants of the estrogen receptor (ER) gene found in breast cancer patients with ER negative and progesterone receptor positive tumors. Cancer Lett 1996, 108, 179–184.
   PubMedGoogle Scholar
• Picard D, Bunone G, Liu JW, Donzé O. Steroid-independent activation of steroid receptors in mammalian and yeast cells and in breast cancer. Biochem Soc Trans 1997, 25, 597–602.
   PubMedGoogle Scholar
• Ito T, Tachibana M, Yamamoto S, Nakashima J, Murai M. Expression of estrogen receptor (ER-alpha and ER-beta) mRNA in human prostate cancer. Eur Urol 2001, 40, 557–563.
   PubMedGoogle Scholar
• Roger P, Sahla ME, Mäkelä S, Gustafsson JA, Baldet P, Rochefort H. Decreased expression of estrogen receptor beta protein in proliferative preinvasive mammary tumors. Cancer Res 2001, 61, 2537–2541.
   PubMed Web of Science ®Google Scholar
• Fixemer T, Remberger K, Bonkhoff H. Differential expression of the estrogen receptor beta (ERbeta) in human prostate tissue, premalignant changes, and in primary, metastatic, and recurrent prostatic adenocarcinoma. Prostate 2003, 54, 79–87.
   PubMed Web of Science ®Google Scholar
• Fisher B, Costantino JP, Wickerham DL, Redmond CK, Kavanah M, Cronin WM, Vogel V, Robidoux A, Dimitrov N, Atkins J, Daly M, Wieand S, Tan-Chiu E, Ford L, Wolmark N. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst 1998, 90, 1371–1388.
   PubMed Web of Science ®Google Scholar
• Balasubramanian SP, Cox A, Brown NJ, Reed MW. Candidate gene polymorphisms in solid cancers. Eur J Surg Oncol 2004, 30, 593–601.
   PubMedGoogle Scholar
• Ioannidis JP, Ralston SH, Bennett ST, Brandi ML, Grinberg D, Karassa FB, Langdahl B, van Meurs JB, Mosekilde L, Scollen S, Albagha OM, Bustamante M, Carey AH, Dunning AM, Enjuanes A, van Leeuwen JP, Mavilia C, Masi L, McGuigan FE, Nogues X, Pols HA, Reid DM, Schuit SC, Sherlock RE, Uitterlinden AG; GENOMOS Study. Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes. JAMA 2004, 292, 2105–2114.
   PubMed Web of Science ®Google Scholar
• Gennari L, Merlotti D, De Paola V, Calabrò A, Becherini L, Martini G, Nuti R. Estrogen receptor gene polymorphisms and the genetics of osteoporosis: a HuGE review. Am J Epidemiol 2005, 161, 307–320.
   PubMed Web of Science ®Google Scholar
• Fytili P, Giannatou E, Papanikolaou V, Stripeli F, Karachalios T, Malizos K, Tsezou A. Association of repeat polymorphisms in the estrogen receptors alpha, beta, and androgen receptor genes with knee osteoarthritis. Clin Genet 2005, 68, 268–277.
   PubMed Web of Science ®Google Scholar
• Riancho JA, García-Ibarbia C, Gravani A, Raine EV, Rodríguez-Fontenla C, Soto-Hermida A, Rego-Perez I, Dodd AW, Gómez-Reino JJ, Zarrabeitia MT, Garcés CM, Carr A, Blanco F, González A, Loughlin J. Common variations in estrogen-related genes are associated with severe large-joint osteoarthritis: a multicenter genetic and functional study. Osteoarthr Cartil 2010, 18, 927–933.
   PubMed Web of Science ®Google Scholar
• Schubert EL, Lee MK, Newman B, King MC. Single nucleotide polymorphisms (SNPs) in the estrogen receptor gene and breast cancer susceptibility. J Steroid Biochem Mol Biol 1999, 71, 21–27.
   PubMedGoogle Scholar
• Anghel A, Raica M, Marian C, Ursoniu S, Mitrasca O. Combined profile of the tandem repeats CAG, TA and CA of the androgen and estrogen receptor genes in breast cancer. J Cancer Res Clin Oncol 2006, 132, 727–733.
   PubMedGoogle Scholar
• Weiderpass E, Persson I, Melhus H, Wedrén S, Kindmark A, Baron JA. Estrogen receptor alpha gene polymorphisms and endometrial cancer risk. Carcinogenesis 2000, 21, 623–627.
   PubMed Web of Science ®Google Scholar
• Tsai SJ, Wang YC, Hong CJ, Chiu HJ. Association study of oestrogen receptor alpha gene polymorphism and suicidal behaviours in major depressive disorder. Psychiatr Genet 2003, 13, 19–22.
   PubMedGoogle Scholar
• Tiemeier H, Schuit SC, den Heijer T, van Meurs JB, van Tuijl HR, Hofman A, Breteler MM, Pols HA, Uitterlinden AG. Estrogen receptor alpha gene polymorphisms and anxiety disorder in an elderly population. Mol Psychiatry 2005, 10, 806–807.
   PubMedGoogle Scholar
• Forsell C, Enmark E, Axelman K, Blomberg M, Wahlund LO, Gustafsson JA, Lannfelt L. Investigations of a CA repeat in the oestrogen receptor beta gene in patients with Alzheimer’s disease. Eur J Hum Genet 2001, 9, 802–804.
   PubMedGoogle Scholar
• Lin GF, Ma QW, Zhang DS, Zha YL, Lou KJ, Shen JH. Polymorphism of alpha-estrogen receptor and aryl hydrocarbon receptor genes in dementia patients in Shanghai suburb. Acta Pharmacol Sin 2003, 24, 651–656.
   PubMedGoogle Scholar
• Monastero R, Cefalù AB, Camarda C, Noto D, Camarda LK, Caldarella R, Imbornone E, Averna MR, Camarda R. Association of estrogen receptor alpha gene with Alzheimer’s disease: a case-control study. J Alzheimers Dis 2006, 9, 273–278.
   PubMedGoogle Scholar
• Lu H, Higashikata T, Inazu A, Nohara A, Yu W, Shimizu M, Mabuchi H. Association of estrogen receptor-alpha gene polymorphisms with coronary artery disease in patients with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2002, 22, 817–823.
   PubMed Web of Science ®Google Scholar
• Sowers MR, Jannausch ML, McConnell DS, Kardia SR, Randolph JF Jr. Endogenous estradiol and its association with estrogen receptor gene polymorphisms. Am J Med 2006, 119, S16–S22.
   PubMedGoogle Scholar
• Lau HH, Ho AY, Luk KD, Kung AW. Estrogen receptor beta gene polymorphisms are associated with higher bone mineral density in premenopausal, but not postmenopausal southern Chinese women. Bone 2002, 31, 276–281.
   PubMed Web of Science ®Google Scholar
• Shearman AM, Karasik D, Gruenthal KM, Demissie S, Cupples LA, Housman DE, Kiel DP. Estrogen receptor beta polymorphisms are associated with bone mass in women and men: the Framingham Study. J Bone Miner Res 2004, 19, 773–781.
   PubMed Web of Science ®Google Scholar
• Coleman RT, Taylor JE, Shine JJ, Frossard PM. Human estrogen receptor (ESR) gene locus: PssI dimorphism. Nucleic Acids Res 1988, 16, 7208.
   PubMedGoogle Scholar
• Garcia T, Sanchez M, Cox JL, Shaw PA, Ross JB, Lehrer S, Schachter B. Identification of a variant form of the human estrogen receptor with an amino acid replacement. Nucleic Acids Res 1989, 17, 8364.
   PubMed Web of Science ®Google Scholar
• Zuppan PJ, Hall JM, Ponglikitmongkol M. Polymorphisms at the estrogen receptor (ESR) locus and linkage relationships on chromosome 6q. (Abstract). Cytogenet Cell Genet 1989, 51, 1116.
   Google Scholar
• del Senno L, Aguiari GL, Piva R. Dinucleotide repeat polymorphism in the human estrogen receptor (ESR) gene. Hum Mol Genet 1992, 1, 354.
   PubMedGoogle Scholar
• Keene KL, Mychaleckyj JC, Smith SG, Leak TS, Perlegas PS, Langefeld CD, Herrington DM, Freedman BI, Rich SS, Bowden DW, Sale MM. Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population. Hum Genet 2008, 123, 333–341.
   PubMed Web of Science ®Google Scholar
• Hall JM, Couse JF, Korach KS. The multifaceted mechanisms of estradiol and estrogen receptor signaling. J Biol Chem 2001, 276, 36869–36872.
   PubMed Web of Science ®Google Scholar
• Anderson TI, Wooster R, Laake K, Collins N, Warren W, Skrede M, Elles R, Tveit KM, Johnston SR, Dowsett M, Olsen AO, Møller P, Stratton MR, Børresen-Dale AL. Screening for ESR mutations in breast and ovarian cancer patients. Hum Mutat 1997, 9, 531–536.
   PubMedGoogle Scholar
• Deng HW, Li J, Li JL, Johnson M, Gong G, Recker RR. Association of VDR and estrogen receptor genotypes with bone mass in postmenopausal Caucasian women: different conclusions with different analyses and the implications. Osteoporos Int 1999, 9, 499–507.
   PubMed Web of Science ®Google Scholar
• Georgiou I, Syrrou M, Bouba I, Dalkalitsis N, Paschopoulos M, Navrozoglou I, Lolis D. Association of estrogen receptor gene polymorphisms with endometriosis. Fertil Steril 1999, 72, 164–166.
   PubMed Web of Science ®Google Scholar
• Modugno F, Zmuda JM, Potter D, Cai C, Ziv E, Cummings SR, Stone KL, Morin PA, Greene D, Cauley JA. Association of estrogen receptor alpha polymorphisms with breast cancer risk in older Caucasian women. Int J Cancer 2005, 116, 984–991.
   PubMed Web of Science ®Google Scholar
• Rivadeneira F, van Meurs JB, Kant J, Zillikens MC, Stolk L, Beck TJ, Arp P, Schuit SC, Hofman A, Houwing-Duistermaat JJ, van Duijn CM, van Leeuwen JP, Pols HA, Uitterlinden AG. Estrogen receptor beta (ESR2) polymorphisms in interaction with estrogen receptor alpha (ESR1) and insulin-like growth factor I (IGF1) variants influence the risk of fracture in postmenopausal women. J Bone Miner Res 2006, 21, 1443–1456.
   PubMed Web of Science ®Google Scholar
• Shearman AM, Cupples LA, Demissie S, Peter I, Schmid CH, Karas RH, Mendelsohn ME, Housman DE, Levy D. Association between estrogen receptor alpha gene variation and cardiovascular disease. JAMA 2003, 290, 2263–2270.
   PubMed Web of Science ®Google Scholar
• Pollak A, Rokach A, Blumenfeld A, Rosen LJ, Resnik L, Dresner Pollak R. Association of oestrogen receptor alpha gene polymorphism with the angiographic extent of coronary artery disease. Eur Heart J 2004, 25, 240–245.
   PubMed Web of Science ®Google Scholar
• Herrington DM, Howard TD, Hawkins GA, Reboussin DM, Xu J, Zheng SL, Brosnihan KB, Meyers DA, Bleecker ER. Estrogen-receptor polymorphisms and effects of estrogen replacement on high-density lipoprotein cholesterol in women with coronary disease. N Engl J Med 2002, 346, 967–974.
   PubMed Web of Science ®Google Scholar
• Alevizaki M, Saltiki K, Cimponeriu A, Kanakakis I, Xita N, Alevizaki CC, Georgiou I, Sarika HL. Severity of cardiovascular disease in postmenopausal women: associations with common estrogen receptor alpha polymorphic variants. Eur J Endocrinol 2007, 156, 489–496.
   PubMed Web of Science ®Google Scholar
• Kikuchi S, Fukazawa T, Niino M, Yabe I, Miyagishi R, Hamada T, Tashiro K. Estrogen receptor gene polymorphism and multiple sclerosis in Japanese patients: interaction with HLA-DRB1*1501 and disease modulation. J Neuroimmunol 2002, 128, 77–81.
   PubMedGoogle Scholar
• Niino M, Kikuchi S, Fukazawa T, Yabe I, Tashiro K. Estrogen receptor gene polymorphism in Japanese patients with multiple sclerosis. J Neurol Sci 2000, 179, 70–75.
   PubMedGoogle Scholar
• Harsløf T, Husted LB, Carstens M, Stenkjaer L, Langdahl BL. Genotypes and haplotypes of the estrogen receptor genes, but not the retinoblastoma-interacting zinc finger protein 1 gene, are associated with osteoporosis. Calcif Tissue Int 2010, 87, 25–35.
   PubMedGoogle Scholar
• Massart F, Becherini L, Gennari L, Facchini V, Genazzani AR, Brandi ML. Genotype distribution of estrogen receptor-alpha gene polymorphisms in Italian women with surgical uterine leiomyomas. Fertil Steril 2001, 75, 567–570.
   PubMed Web of Science ®Google Scholar
• Speer G, Cseh K, Winkler G, Vargha P, Braun E, Takács I, Lakatos P. Vitamin D and estrogen receptor gene polymorphisms in type 2 diabetes mellitus and in android type obesity. Eur J Endocrinol 2001, 144, 385–389.
   PubMedGoogle Scholar
• Yamada Y, Ando F, Niino N, Ohta S, Shimokata H. Association of polymorphisms of the estrogen receptor alpha gene with bone mineral density of the femoral neck in elderly Japanese women. J Mol Med 2002, 80, 452–460.
   PubMedGoogle Scholar
• Kukuvitis A, Georgiou I, Bouba I, Tsirka A, Giannouli CH, Yapijakis C, Tarlatzis B, Bontis J, Lolis D, Sofikitis N, Papadimas J. Association of oestrogen receptor alpha polymorphisms and androgen receptor CAG trinucleotide repeats with male infertility: a study in 109 Greek infertile men. Int J Androl 2002, 25, 149–152.
   PubMedGoogle Scholar
• Suzuki Y, Sasagawa I, Itoh K, Ashida J, Muroya K, Ogata T. Estrogen receptor alpha gene polymorphism is associated with idiopathic azoospermia. Fertil Steril 2002, 78, 1341–1343.
   PubMed Web of Science ®Google Scholar
• Lazaros LA, Xita NV, Kaponis AI, Zikopoulos KA, Plachouras NI, Georgiou IA. Estrogen receptor alpha and beta polymorphisms are associated with semen quality. J Androl 2010, 31, 291–298.
   PubMedGoogle Scholar
• Wang J, Nuite M, McAlindon TE. Association of estrogen and aromatase gene polymorphisms with systemic lupus erythematosus. Lupus 2010, 19, 734–740.
   PubMedGoogle Scholar
• Brandi ML, Becherini L, Gennari L, Racchi M, Bianchetti A, Nacmias B, Sorbi S, Mecocci P, Senin U, Govoni S. Association of the estrogen receptor alpha gene polymorphisms with sporadic Alzheimer’s disease. Biochem Biophys Res Commun 1999, 265, 335–338.
   PubMed Web of Science ®Google Scholar
• Isoe-Wada K, Maeda M, Yong J, Adachi Y, Harada H, Urakami K, Nakashima K. Positive association between an estrogen receptor gene polymorphism and Parkinson’s disease with dementia. Eur J Neurol 1999, 6, 431–435.
   PubMedGoogle Scholar
• Mattila KM, Axelman K, Rinne JO, Blomberg M, Lehtimäki T, Laippala P, Röyttä M, Viitanen M, Wahlund L, Winblad B, Lannfelt L. Interaction between estrogen receptor 1 and the epsilon4 allele of apolipoprotein E increases the risk of familial Alzheimer’s disease in women. Neurosci Lett 2000, 282, 45–48.
   PubMedGoogle Scholar
• Boada M, Antunez C, López-Arrieta J, Caruz A, Moreno-Rey C, Ramírez-Lorca R, Morón FJ, Hernández I, Mauleón A, Rosende-Roca M, Martínez-Lage P, Marín J, Tárraga L, Alegret M, Pedrajas JR, Urda N, Royo JL, Eugenia Saez M, Gayán J, González-Pérez A, Real LM, Ruiz A, Galán JJ. Estrogen receptor alpha gene variants are associated with Alzheimer’s disease. Neurobiology of Aging 2012, 33, 198.e15–198.e24.
   Google Scholar
• Onland-Moret NC, van Gils CH, Roest M, Grobbee DE, Peeters PH. The estrogen receptor alpha gene and breast cancer risk (The Netherlands). Cancer Causes Control 2005, 16, 1195–1202.
   PubMed Web of Science ®Google Scholar
• Chen GG, Zeng Q, Tse GM. Estrogen and its receptors in cancer. Med Res Rev 2008, 28, 954–974.
   PubMed Web of Science ®Google Scholar
• Shen Y, Li DK, Wu J, Zhang Z, Gao E. Joint effects of the CYP1A1 MspI, ERalpha PvuII, and ERalpha XbaI polymorphisms on the risk of breast cancer: results from a population-based case-control study in Shanghai, China. Cancer Epidemiol Biomarkers Prev 2006, 15, 342–347.
   PubMed Web of Science ®Google Scholar
• Pavao M, Traish AM. Estrogen receptor antibodies: specificity and utility in detection, localization and analyses of estrogen receptor alpha and beta. Steroids 2001, 66, 1–16.
   PubMedGoogle Scholar
• Curran JE, Lea RA, Rutherford S, Weinstein SR, Griffiths LR. Association of estrogen receptor and glucocorticoid receptor gene polymorphisms with sporadic breast cancer. Int J Cancer 2001, 95, 271–275.
   PubMedGoogle Scholar
• Akisik E, Dalay N. Estrogen receptor codon 594 and HER2 codon 655 polymorphisms and breast cancer risk. Exp Mol Pathol 2004, 76, 260–263.
   PubMedGoogle Scholar
• Tapper W, Hammond V, Gerty S, Ennis S, Simmonds P, Collins A, Eccles D; Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) Steering Group. The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer. Breast Cancer Res 2008, 10, R108.
   PubMedGoogle Scholar
• Kallel I, Rebai M, Khabir A, Farid NR, Rebaï A. Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 protein expression, and breast cancer risk in Tunisia. J Biomed Biotechnol 2009, 2009, 753683.
   PubMedGoogle Scholar
• Jeon S, Choi JY, Lee KM, Park SK, Yoo KY, Noh DY, Ahn SH, Kang D. Combined genetic effect of CDK7 and ESR1 polymorphisms on breast cancer. Breast Cancer Res Treat 2010, 121, 737–742.
   PubMedGoogle Scholar
• Rebaï M, Kallel I, Charfeddine S, Hamza F, Guermazi F, Rebaï A. Association of polymorphisms in estrogen and thyroid hormone receptors with thyroid cancer risk. J Recept Signal Transduct Res 2009, 29, 113–118.
   PubMedGoogle Scholar
• Tawonsawatruk T, Trachoo O, Channoom T, Sura T, Eu-ahsunthornwattana J, Woratanarat P, Wajanavisit W. Association of estrogen receptor-alpha single-nucleotide polymorphism (codon 594 G–>A) and Thai patients affected by knee osteoarthritis. J Med Assoc Thai 2009, 92 Suppl 6, S45–S50.
   Google Scholar
• Gómez R, Magaña JJ, Cisneros B, Pérez-Salazar E, Faugeron S, Véliz D, Castro C, Rubio J, Casas L, Valdés-Flores M. Association of the estrogen receptor alpha gene polymorphisms with osteoporosis in the Mexican population. Clin Genet 2007, 72, 574–581.
   PubMed Web of Science ®Google Scholar
• Kenealy MR, Flouriot G, Sonntag-Buck V, Dandekar T, Brand H, Gannon F. The 3′-untranslated region of the human estrogen receptor alpha gene mediates rapid messenger ribonucleic acid turnover. Endocrinology 2000, 141, 2805–2813.
   PubMedGoogle Scholar
• Zhang L, Gu L, Qian B, Hao X, Zhang W, Wei Q, Chen K. Association of genetic polymorphisms of ER-alpha and the estradiol-synthesizing enzyme genes CYP17 and CYP19 with breast cancer risk in Chinese women. Breast Cancer Res Treat 2009, 114, 327–338.
   PubMed Web of Science ®Google Scholar
• Hoshino S, Hosoi T, Miyao M, Shiraki M, Orimo H, Ouchi Y, Inoue S. Identification of a novel polymorphism of estrogen receptor-alpha gene that is associated with calcium excretion in urine. J Bone Miner Metab 2000, 18, 153–157.
   PubMedGoogle Scholar
• Ongphiphadhanakul B, Chanprasertyothin S, Payattikul P, Saetung S, Piaseu N, Chailurkit L, Chansirikarn S, Puavilai G, Rajatanavin R. Association of a T262C transition in exon 1 of estrogen-receptor-alpha gene with skeletal responsiveness to estrogen in post-menopausal women. J Endocrinol Invest 2001, 24, 749–755.
   PubMedGoogle Scholar
• Ongphiphadhanakul B, Chanprasertyothin S, Payattikul P, Saetung S, Piaseu N, Chailurkit L, Rajatanavin R. Association of a G2014A transition in exon 8 of the estrogen receptor-alpha gene with postmenopausal osteoporosis. Osteoporos Int 2001, 12, 1015–1019.
   PubMedGoogle Scholar
• Sand P, Luckhaus C, Schlurmann K, Götz M, Deckert J. Untangling the human estrogen receptor gene structure. J Neural Transm 2002, 109, 567–583.
   PubMedGoogle Scholar
• Boyapati SM, Shu XO, Ruan ZX, Cai Q, Smith JR, Wen W, Gao YT, Zheng W. Polymorphisms in ER-alpha gene interact with estrogen receptor status in breast cancer survival. Clin Cancer Res 2005, 11, 1093–1098.
   PubMedGoogle Scholar
• Becherini L, Gennari L, Masi L, Mansani R, Massart F, Morelli A, Falchetti A, Gonnelli S, Fiorelli G, Tanini A, Brandi ML. Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor alpha gene and their relationship to bone mass variation in postmenopausal Italian women. Hum Mol Genet 2000, 9, 2043–2050.
   PubMed Web of Science ®Google Scholar
• Sano M, Inoue S, Hosoi T, Ouchi Y, Emi M, Shiraki M, Orimo H. Association of estrogen receptor dinucleotide repeat polymorphism with osteoporosis. Biochem Biophys Res Commun 1995, 217, 378–383.
   PubMed Web of Science ®Google Scholar
• Chen HY, Chen WC, Tsai HD, Hsu CD, Tsai FJ, Tsai CH. Relation of the estrogen receptor alpha gene microsatellite polymorphism to bone mineral density and the susceptibility to osteoporosis in postmenopausal Chinese women in Taiwan. Maturitas 2001, 40, 143–150.
   PubMedGoogle Scholar
• Sowers M, Willing M, Burns T, Deschenes S, Hollis B, Crutchfield M, Jannausch M. Genetic markers, bone mineral density, and serum osteocalcin levels. J Bone Miner Res 1999, 14, 1411–1419.
   PubMed Web of Science ®Google Scholar
• Langdahl BL, Løkke E, Carstens M, Stenkjaer LL, Eriksen EF. A TA repeat polymorphism in the estrogen receptor gene is associated with osteoporotic fractures but polymorphisms in the first exon and intron are not. J Bone Miner Res 2000, 15, 2222–2230.
   PubMed Web of Science ®Google Scholar
• van Meurs JB, Schuit SC, Weel AE, van der Klift M, Bergink AP, Arp PP, Colin EM, Fang Y, Hofman A, van Duijn CM, van Leeuwen JP, Pols HA, Uitterlinden AG. Association of 5′ estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture risk. Hum Mol Genet 2003, 12, 1745–1754.
   PubMed Web of Science ®Google Scholar
• Bretherick KL, Hanna CW, Currie LM, Fluker MR, Hammond GL, Robinson WP. Estrogen receptor α gene polymorphisms are associated with idiopathic premature ovarian failure. Fertil Steril 2008, 89, 2.
   Google Scholar
• Tsezou A, Tzetis M, Gennatas C, Giannatou E, Pampanos A, Malamis G, Kanavakis E, Kitsiou S. Association of repeat polymorphisms in the estrogen receptors alpha, beta (ESR1, ESR2) and androgen receptor (AR) genes with the occurrence of breast cancer. Breast 2008, 17, 159–166.
   PubMed Web of Science ®Google Scholar
• Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996, 380, 152–154.
   PubMed Web of Science ®Google Scholar
• Lai BM, Cheung CL, Luk KD, Kung AW. Estrogen receptor alpha CA dinucleotide repeat polymorphism is associated with rate of bone loss in perimenopausal women and bone mineral density and risk of osteoporotic fractures in postmenopausal women. Osteoporos Int 2008, 19, 571–579.
   PubMedGoogle Scholar
• Baida A, Farrington SM, Galofré P, Marcos R, Velázquez A. Thyroid cancer susceptibility and THRA1 and BAT-40 repeats polymorphisms. Cancer Epidemiol Biomarkers Prev 2005, 14, 638–642.
   PubMedGoogle Scholar
• Onda M, Li D, Suzuki S, Nakamura I, Takenoshita S, Brogren CH, Stampanoni S, Rampino N. Expansion of microsatellite in the thyroid hormone receptor-alpha1 gene linked to increased receptor expression and less aggressive thyroid cancer. Clin Cancer Res 2002, 8, 2870–2874.
   PubMedGoogle Scholar
• Zou A, Marschke KB, Arnold KE, Berger EM, Fitzgerald P, Mais DE, Allegretto EA. Estrogen receptor beta activates the human retinoic acid receptor alpha-1 promoter in response to tamoxifen and other estrogen receptor antagonists, but not in response to estrogen. Mol Endocrinol 1999, 13, 418–430.
   PubMed Web of Science ®Google Scholar
• Bieche I, Parfait B, Laurendeau I, Girault I, Vidaud M, Lidereau R. Quantification of estrogen receptor alpha and beta expression in sporadic breast cancer. Oncogene 2001, 20, 8109–8115.
   PubMed Web of Science ®Google Scholar
• Poola I, Abraham J, Liu A. Estrogen receptor beta splice variant mRNAs are differentially altered during breast carcinogenesis. J Steroid Biochem Mol Biol 2002, 82, 169–179.
   PubMedGoogle Scholar
• Saji S, Omoto Y, Shimizu C, Horiguchi S, Watanabe T, Funata N, Hayash S, Gustafsson JA, Toi M. Clinical impact of assay of estrogen receptor beta cx in breast cancer. Breast Cancer 2002, 9, 303–307.
   PubMedGoogle Scholar
• Omoto Y, Eguchi H, Yamamoto-Yamaguchi Y, Hayashi S. Estrogen receptor (ER) beta1 and ERbetacx/beta2 inhibit ERalpha function differently in breast cancer cell line MCF7. Oncogene 2003, 22, 5011–5020.
   PubMed Web of Science ®Google Scholar
• Weihua Z, Andersson S, Cheng G, Simpson ER, Warner M, Gustafsson JA. Update on estrogen signaling. FEBS Lett 2003, 546, 17–24.
   PubMed Web of Science ®Google Scholar
• Rosenkranz K, Hinney A, Ziegler A, Hermann H, Fichter M, Mayer H, Siegfried W, Young JK, Remschmidt H, Hebebrand J. Systematic mutation screening of the estrogen receptor beta gene in probands of different weight extremes: identification of several genetic variants. J Clin Endocrinol Metab 1998, 83, 4524–4527.
   PubMed Web of Science ®Google Scholar
• Sundarrajan C, Liao WX, Roy AC, Ng SC. Association between estrogen receptor-beta gene polymorphisms and ovulatory dysfunctions in patients with menstrual disorders. J Clin Endocrinol Metab 2001, 86, 135–139.
   PubMed Web of Science ®Google Scholar
• Zhao C, Xu L, Otsuki M, Toresson G, Koehler K, Pan-Hammarström Q, Hammarström L, Nilsson S, Gustafsson JA, Dahlman-Wright K. Identification of a functional variant of estrogen receptor beta in an African population. Carcinogenesis 2004, 25, 2067–2073.
   PubMedGoogle Scholar
• Försti A, Zhao C, Israelsson E, Dahlman-Wright K, Gustafsson JA, Hemminki K. Polymorphisms in the estrogen receptor beta gene and risk of breast cancer: no association. Breast Cancer Res Treat 2003, 79, 409–413.
   PubMedGoogle Scholar
• Hasegawa S, Miyoshi Y, Ikeda N, Egawa C, Tamaki Y, Monden M, Noguchi S. Mutational analysis of estrogen receptor-beta gene in human breast cancers. Breast Cancer Res Treat 2003, 78, 133–134.
   PubMedGoogle Scholar
• Zheng SL, Zheng W, Chang BL, Shu XO, Cai Q, Yu H, Dai Q, Xu J, Gao YT. Joint effect of estrogen receptor beta sequence variants and endogenous estrogen exposure on breast cancer risk in Chinese women. Cancer Res 2003, 63, 7624–7629.
   PubMed Web of Science ®Google Scholar
• Surekha D, Sailaja K, Nageswara Rao D, Raghunadharao D, Vishnupriya S. Oestrogen receptor beta (ERβ) polymorphism and its influence on breast cancer risk. J Gent 2009, 88 (2), 261–266.
   Google Scholar
• Maguire P, Margolin S, Skoglund J, Sun XF, Gustafsson JA, Børresen-Dale AL, Lindblom A. Estrogen receptor beta (ESR2) polymorphisms in familial and sporadic breast cancer. Breast Cancer Res Treat 2005, 94, 145–152.
   PubMedGoogle Scholar
• Cox DG, Bretsky P, Kraft P, Pharoah P, Albanes D, Altshuler D, Amiano P, Berglund G, Boeing H, Buring J, Burtt N, Calle EE, Canzian F, Chanock S, Clavel-Chapelon F, Colditz GA, Feigelson HS, Haiman CA, Hankinson SE, Hirschhorn J, Henderson BE, Hoover R, Hunter DJ, Kaaks R, Kolonel L, LeMarchand L, Lund E, Palli D, Peeters PH, Pike MC, Riboli E, Stram DO, Thun M, Tjonneland A, Travis RC, Trichopoulos D, Yeager M; Breast and Prostate Cancer Cohort Consortium. Haplotypes of the estrogen receptor beta gene and breast cancer risk. Int J Cancer 2008, 122, 387–392.
   PubMedGoogle Scholar
• Iwasaki M, Hamada GS, Nishimoto IN, Netto MM, Motola J Jr, Laginha FM, Kasuga Y, Yokoyama S, Onuma H, Nishimura H, Kusama R, Kobayashi M, Ishihara J, Yamamoto S, Hanaoka T, Tsugane S. Isoflavone, polymorphisms in estrogen receptor genes and breast cancer risk in case-control studies in Japanese, Japanese Brazilians and non-Japanese Brazilians. Cancer Sci 2009, 100, 927–933.
   PubMed Web of Science ®Google Scholar
• Treeck O, Elemenler E, Kriener C, Horn F, Springwald A, Hartmann A, Ortmann O. Polymorphisms in the promoter region of ESR2 gene and breast cancer susceptibility. J Steroid Biochem Mol Biol 2009, 114, 207–211.
   PubMedGoogle Scholar
• Abbasi S. Estrogen receptor-beta gene polymorphism in women with breast cancer at the Imam Khomeini Hospital Complex, Iran. BMC Med Genet 2010, 11, 109.
   PubMedGoogle Scholar
• Safarinejad MR, Shafiei N, Safarinejad S. Association of polymorphisms in the estrogen receptors alpha, and beta (ESR1, ESR2) with the occurrence of male infertility and semen parameters. J Steroid Biochem Mol Biol 2010, 122, 193–203.
   PubMed Web of Science ®Google Scholar
• Tsukamoto K, Inoue S, Hosoi T, Orimo H, Emi M. Isolation and radiation hybrid mapping of dinucleotide repeat polymorphism at the human estrogen receptor beta locus. J Hum Genet 1998, 43, 73–74.
   PubMed Web of Science ®Google Scholar
• Ogawa S, Hosoi T, Shiraki M, Orimo H, Emi M, Muramatsu M, Ouchi Y, Inoue S. Association of estrogen receptor beta gene polymorphism with bone mineral density. Biochem Biophys Res Commun 2000, 269, 537–541.
   PubMed Web of Science ®Google Scholar
• Scariano JK, Simplicio SG, Montoya GD, Garry PJ, Baumgartner RN. Estrogen receptor beta dinucleotide (CA) repeat polymorphism is significantly associated with bone mineral density in postmenopausal women. Calcif Tissue Int 2004, 74, 501–508.
   PubMed Web of Science ®Google Scholar
• Geng L, Yao Z, Yang H, Luo J, Han L, Lu Q. Association of CA repeat polymorphism in estrogen receptor beta gene with postmenopausal osteoporosis in Chinese. J Genet Genomics 2007, 34, 868–876.
   PubMedGoogle Scholar
• Westberg L, Baghaei F, Rosmond R, Hellstrand M, Landén M, Jansson M, Holm G, Björntorp P, Eriksson E. Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women. J Clin Endocrinol Metab 2001, 86, 2562–2568.
   PubMed Web of Science ®Google Scholar
• Roodi N, Bailey LR, Kao WY, Verrier CS, Yee CJ, Dupont WD, Parl FF. Estrogen receptor gene analysis in estrogen receptor-positive and receptor-negative primary breast cancer. J Natl Cancer Inst 1995, 87, 446–451.
   PubMedGoogle Scholar
• Vasconcelos A, Medeiros R, Veiga I, Pereira D, Carrilho S, Palmeira C, Azevedo C, Lopes CS. Analysis of estrogen receptor polymorphism in codon 325 by PCR-SSCP in breast cancer: association with lymph node metastasis. Breast J 2002, 8, 226–229.
   PubMedGoogle Scholar
• Fuqua SA, Chamness GC, McGuire WL. Estrogen receptor mutations in breast cancer. J Cell Biochem 1993, 51, 135–139.
   PubMed Web of Science ®Google Scholar
• Clarke CL, Balleine RL, Auchus RJ, Fuqua SAW. Estrogen and progesterone receptor variants in human breast cancer. Curr Opin Endocrin Diabet 1995, 2, 398–403.
   Google Scholar
• Murphy LC, Dotzlaw H, Leygue E, Douglas D, Coutts A, Watson PH. Estrogen receptor variants and mutations. J Steroid Biochem Mol Biol 1997, 62, 363–372.
   PubMed Web of Science ®Google Scholar
• Fuqua SA, Wiltschke C, Zhang QX, Borg A, Castles CG, Friedrichs WE, Hopp T, Hilsenbeck S, Mohsin S, O’Connell P, Allred DC. A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions. Cancer Res 2000, 60, 4026–4029.
   PubMed Web of Science ®Google Scholar
• Herynk MH, Fuqua SA. Estrogen receptor mutations in human disease. Endocr Rev 2004, 25, 869–898.
   PubMed Web of Science ®Google Scholar
• Conway K, Parrish E, Edmiston SN, Tolbert D, Tse CK, Geradts J, Livasy CA, Singh H, Newman B, Millikan RC. The estrogen receptor-alpha A908G (K303R) mutation occurs at a low frequency in invasive breast tumors: results from a population-based study. Breast Cancer Res 2005, 7, R871–R880.
   Google Scholar
• Conway K, Parrish E, Edmiston SN, Tolbert D, Tse CK, Moorman P, Newman B, Millikan RC. Risk factors for breast cancer characterized by the estrogen receptor alpha A908G (K303R) mutation. Breast Cancer Res 2007, 9, R36.
   Google Scholar
• Zubairy S, Cui Y, Fuqua SA. The K303R estrogen receptor alpha breast cancer mutant generates a new Akt kinase site. Proc Am Assoc Cancer Res 2004, 45, 659.
   Google Scholar
• Cui Y, Zhang M, Pestell R, Curran EM, Welshons WV, Fuqua SA. Phosphorylation of estrogen receptor alpha blocks its acetylation and regulates estrogen sensitivity. Cancer Res 2004, 64, 9199–9208.
   PubMedGoogle Scholar
• Cui Y, Zhang M, Van M, Hopp T, Sukumar S, Fuqua SAW. The K303R ER alpha breast cancer specific mutation resides at a site of coupling ER acetylation and phosphorylation. Proc Am Assoc Cancer Res 2003, 44, 205.
   Google Scholar
• Cancel-Tassin G, Latil A, Rousseau F, Mangin P, Bottius E, Escary JL, Berthon P, Cussenot O. Association study of polymorphisms in the human estrogen receptor alpha gene and prostate cancer risk. Eur Urol 2003, 44, 487–490.
   PubMedGoogle Scholar
• Ashworth JJ, Smyth JV, Pendleton N, Horan M, Payton A, Worthington J, Ollier WE, Ashcroft GS. The dinucleotide (CA) repeat polymorphism of estrogen receptor beta but not the dinucleotide (TA) repeat polymorphism of estrogen receptor alpha is associated with venous ulceration. J Steroid Biochem Mol Biol 2005, 97, 266–270.
   PubMed Web of Science ®Google Scholar
• Zhang QX, Borg A, Wolf DM, Oesterreich S, Fuqua SA. An estrogen receptor mutant with strong hormone-independent activity from a metastatic breast cancer. Cancer Res 1997, 57, 1244–1249.
   PubMed Web of Science ®Google Scholar
• Schmutzler RK, Sanchez M, Lehrer S, Chaparro CA, Phillips C, Rabin J, Schachter B. Incidence of an estrogen receptor polymorphism in breast cancer patients. Breast Cancer Res Treat 1991, 19, 111–117.
   PubMed Web of Science ®Google Scholar
• Zelada-Hedman M, Børresen-Dale AL, Lindblom A. Screening of 229 family cancer patients for a germline estrogen receptor gene (ESR) base mutation. Hum Mutat 1997, 9, 289.
   PubMedGoogle Scholar
• Feng J, Yan J, Michaud S, Craddock N, Jones IR, Cook EH Jr, Goldman D, Heston LL, Peltonen L, Delisi LE, Sommer SS. Scanning of estrogen receptor alpha (ERalpha) and thyroid hormone receptor alpha (TRalpha) genes in patients with psychiatric diseases: four missense mutations identified in ERalpha gene. Am J Med Genet 2001, 105, 369–374.
   PubMedGoogle Scholar
• McGuire WL, Chamness GC, Fuqua SA. Abnormal estrogen receptor in clinical breast cancer. J Steroid Biochem Mol Biol 1992, 43, 243–247.
   PubMedGoogle Scholar
• Karnik PS, Kulkarni S, Liu XP, Budd GT, Bukowski RM. Estrogen receptor mutations in tamoxifen-resistant breast cancer. Cancer Res 1994, 54, 349–353.
   PubMed Web of Science ®Google Scholar
• Tremblay GB, Tremblay A, Labrie F, Giguère V. Ligand-independent activation of the estrogen receptors alpha and beta by mutations of a conserved tyrosine can be abolished by antiestrogens. Cancer Res 1998, 58, 877–881.
   PubMedGoogle Scholar
• Skafar DF. Formation of a powerful capping motif corresponding to start of « helix 12 » in agonist-bound estrogen receptor-alpha contributes to increased constitutive activity of the protein. Cell Biochem Biophys 2000, 33, 53–62.
   PubMedGoogle Scholar
• Assikis VJ, Bilimoria MM, Muenzner HD, Lurain JR, Jordan VC. Mutations of the estrogen receptor in endometrial carcinoma: evidence of an association with high tumor grade. Gynecol Oncol 1996, 63, 192–199.
   PubMedGoogle Scholar
• England GM, Bilimoria MM, Chen Z, Assikis VJ, Muenzner HD, Jordan VC. Characterization of a point mutation in the hormone binding domain of the estrogen receptor from an breast tumor. Int J Oncol 1998, 12, 981–986.
   PubMedGoogle Scholar